Arterial Calcification Due to Deficiency of CD73NCT00369421
Diagnosis and Treatment of Patients With Inborn Errors of Metabolism
An observational study of Arterial Calcification Due to Deficiency of CD73, run by National Human Genome Research Institute (NHGRI) at 1 site in United States.
Trial summary
Researchers intend on diagnosing and treating certain inborn errors of metabolism. By doing this researchers hope to expand their knowledge about these disorders and provide access to patients of interest for research, teaching, and clinical experience. Read more about this study
- Who is it for?
- Ages 1 month to 115 yearsHealthy volunteers can take part
- Conditions the study is for
- Arterial Calcification Due to Deficiency of CD73
- How many people
- 4,000 participants
- Where
- 1 siteUnited States
- Study dates
- 12 Sep 1978to not given
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 1 month to 115 years
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Unique disorders.
Who may be able to join
- Participants 1 month or older will have been or will be referred to this protocol with a known or suspected inborn error of metabolism, heritable disorder, or genetic predisposition. Participants over two years of age will be admitted only if they are medically stable and require admission to the Clinical Center for diagnosis. Children ages 1 month to 2 years or under 12 kg will be reviewed by the Pediatric Consult Service prior to scheduling and if approved will be evaluated.
- Examples of disorders that will be under this protocol include inherited developmental defects or diatheses toward infections, cancer, or an environmentally induced disease. The principal investigator, along with consulting specialists, will review the medical records of prospective participants and offer admission based upon the potential to help the individual, to learn from the participant, or to initiate clinical or basic research suggested by the participant s workup. This protocol is not intended to serve as an umbrella protocol for small studies of specific disorders. In general, no more than 5 families known to have the same disorder will be investigated under this protocol.
- Some participants will be relatives of patients with known diagnoses, and their specimens will be obtained for the purpose of heterozygote testing or to serve as controls to help diagnose the proband. All participants shall be seen as inpatients, outpatients or via Telehealth at the discretion of the principal investigator, based upon particular research interests and expertise. Normal adult volunteers aged 18 years or older will be enrolled to provide control blood and urine specimens.
Who cannot join
- Participants under 1 month of age will not be seen at the NIH Clinical center because care is more readily proffered to older individuals at the Clinical Center.
- Participants over two years of age will not be admitted if they are medically unstable and do not require admission to the Clinical Center for diagnosis.
- Pregnant women are excluded.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR), 800-411-1222 ext. TTY dial 711, ccopr@nih.gov
About this study
Official title: Diagnosis and Treatment of Patients With Inborn Errors of Metabolism or Other Genetic Disorders
Researchers intend on diagnosing and treating certain inborn errors of metabolism. By doing this researchers hope to expand their knowledge about these disorders and provide access to patients of interest for research, teaching, and clinical experience.
Patients participating in this study will be examined and treated on an out patient basis, if practical. However, patients requiring specialized tests or treatments will be admitted to the NIH Clinical Center as necessary. Researchers will use only accepted medical procedures in diagnosing (medical history, physical examinations, X-ray studies, eye examinations, blood tests, and urine tests) and treating the patients involved in this study. Additional tests may be required on a case to case basis.
Many patients seen in this study will go on to be enrolled in a specific disease-related research study.<TAB>...
Read the detailed description
Study Description:
We propose to characterize the etiology and natural history of rare inborn errors of metabolism and other genetic disorders, both known and yet-to-be discovered. In so doing, we will expand our knowledge about these disorders and provide access to patients of interest for research, teaching, and clinical experience.
Objectives:
The overall aim of this protocol is to advance our knowledge of genetic disorders.
- Keywords
- Biochemical Diseases, Rare Diseases, Family Studies, Screening, Next Generation Sequencing, Natural History
- Medical subject headings
- Rare Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Healthy Volunteers | Healthy Volunteers | |
| Patients | Patients with unique disorders | |
| Unaffected family members | Unaffected family members of patients |
What is being measured
The primary outcome is the main question the study is designed to answer.
Clinical phenotyping
Clinical characterization.
Measured: years to decades followup
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted29 Aug 2006 (estimated)
- Study start12 Sep 1978
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (9)Papers the sponsor has linked to this study.
- Other trials for Arterial Calcification Due to Deficiency of CD73Studies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Other
- Time perspective
- Prospective
- Enrolment
- 4,000 participants (estimated)
Sponsor and investigators
- Lead sponsor
- National Human Genome Research Institute (NHGRI)
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- William A Gahl, M.D., Principal investigator, National Human Genome Research Institute (NHGRI)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00369421
- Sponsor's protocol ID
- 760238
- Other IDs
- 76-HG-0238
- Status last verified
- 6 Oct 2026
- First submitted
- 25 Aug 2006
- Last updated
- 29 Oct 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: pending
Publications
Gahl WA, Adamson M, Kaiser-Kupfer I, Ludwig IH, O'Connell HJ, Cohen W, Barranger J. Biochemical phenotyping of a single sibship with both cystinosis and Fabry disease. J Inherit Metab Dis. 1985;8(3):127-31. doi: 10.1007/BF01819297.
PubMed 3027448Bernardini I, Rizzo WB, Dalakas M, Bernar J, Gahl WA. Plasma and muscle free carnitine deficiency due to renal Fanconi syndrome. J Clin Invest. 1985 Apr;75(4):1124-30. doi: 10.1172/JCI111806.
PubMed 3988933Kaiser-Kupfer MI, Caruso RC, Minkler DS, Gahl WA. Long-term ocular manifestations in nephropathic cystinosis. Arch Ophthalmol. 1986 May;104(5):706-11. doi: 10.1001/archopht.1986.01050170096030.
PubMed 3518682Theng EH, Brewer CC, Oheim R, Zalewski CK, King KA, Delsmann MM, Rolvien T, Gafni RI, Braddock DT, Jeffrey Kim H, Ferreira CR. Characterization of hearing-impairment in Generalized Arterial Calcification of Infancy (GACI). Orphanet J Rare Dis. 2022 Jul 19;17(1):273. doi: 10.1186/s13023-022-02410-w.
PubMed 35854274Cohen JI, Manoli I, Dowdell K, Krogmann TA, Tamura D, Radecki P, Bu W, Turk SP, Liepshutz K, Hornung RL, Fassihi H, Sarkany RP, Bonnycastle LL, Chines PS, Swift AJ, Myers TG, Levoska MA, DiGiovanna JJ, Collins FS, Kraemer KH, Pittaluga S, Jaffe ES. Hydroa vacciniforme-like lymphoproliferative disorder: an EBV disease with a low risk of systemic illness in whites. Blood. 2019 Jun 27;133(26):2753-2764. doi: 10.1182/blood.2018893750. Epub 2019 May 7.
PubMed 31064750Thumbigere-Math V, Alqadi A, Chalmers NI, Chavez MB, Chu EY, Collins MT, Ferreira CR, FitzGerald K, Gafni RI, Gahl WA, Hsu KS, Ramnitz MS, Somerman MJ, Ziegler SG, Foster BL. Hypercementosis Associated with ENPP1 Mutations and GACI. J Dent Res. 2018 Apr;97(4):432-441. doi: 10.1177/0022034517744773. Epub 2017 Dec 15.
PubMed 29244957Gunay-Aygun M, Zivony-Elboum Y, Gumruk F, Geiger D, Cetin M, Khayat M, Kleta R, Kfir N, Anikster Y, Chezar J, Arcos-Burgos M, Shalata A, Stanescu H, Manaster J, Arat M, Edwards H, Freiberg AS, Hart PS, Riney LC, Patzel K, Tanpaiboon P, Markello T, Huizing M, Maric I, Horne M, Kehrel BE, Jurk K, Hansen NF, Cherukuri PF, Jones M, Cruz P, Mullikin JC, Nurden A, White JG, Gahl WA, Falik-Zaccai T. Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p. Blood. 2010 Dec 2;116(23):4990-5001. doi: 10.1182/blood-2010-05-286534. Epub 2010 Aug 13.
PubMed 20709904Maynard DM, Heijnen HF, Gahl WA, Gunay-Aygun M. The alpha-granule proteome: novel proteins in normal and ghost granules in gray platelet syndrome. J Thromb Haemost. 2010 Aug;8(8):1786-96. doi: 10.1111/j.1538-7836.2010.03932.x. Epub 2010 May 27.
PubMed 20524979Huizing M, Dorward H, Ly L, Klootwijk E, Kleta R, Skovby F, Pei W, Feldman B, Gahl WA, Anikster Y. OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria. Mol Genet Metab. 2010 Jun;100(2):149-54. doi: 10.1016/j.ymgme.2010.03.005. Epub 2010 Mar 16.
PubMed 20350831
Study at a glance
From the registry record, last updated by the sponsor on 29 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Diagnosis and Treatment of Patients With Inborn Errors of Metabolism or Other Genetic Disorders
- ClinicalTrials.gov ID
- NCT00369421
- Acronym / sponsor ID
- 760238
- Keywords
- Biochemical Diseases, Rare Diseases, Family Studies, Screening, Next Generation Sequencing, Natural History
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 4,000 participants (estimated)
- Lead sponsor
- National Human Genome Research Institute (NHGRI)US National Institutes of Health
- Study start
- 12 Sep 1978 (actual)
- First posted
- 29 Aug 2006 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Researchers intend on diagnosing and treating certain inborn errors of metabolism. By doing this researchers hope to expand their knowledge about these disorders and provide access to patients of interest for research, teaching, and clinical experience.
Patients participating in this study will be examined and treated on an out patient basis, if practical. However, patients requiring specialized tests or treatments will be admitted to the NIH Clinical Center as necessary. Researchers will use only accepted medical procedures in diagnosing (medical history, physical examinations, X-ray studies, eye examinations, blood tests, and urine tests) and treating the patients involved in this study. Additional tests may be required on a case to case basis.
Many patients seen in this study will go on to be enrolled in a specific disease-related research study.<TAB>...
Detailed description
Study Description:
We propose to characterize the etiology and natural history of rare inborn errors of metabolism and other genetic disorders, both known and yet-to-be discovered. In so doing, we will expand our knowledge about these disorders and provide access to patients of interest for research, teaching, and clinical experience.
Objectives:
The overall aim of this protocol is to advance our knowledge of genetic disorders.
Study design
- Observational model
- Other
- Time perspective
- Prospective
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| Healthy Volunteers | – | –Healthy Volunteers |
| Patients | – | –Patients with unique disorders |
| Unaffected family members | – | –Unaffected family members of patients |
Who may qualify
- Ages
- 1 month to 115 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Unique disorders.
Key inclusion criteria (3 listed)
- Participants 1 month or older will have been or will be referred to this protocol with a known or suspected inborn error of metabolism, heritable disorder, or genetic predisposition. Participants over two years of age will be admitted only if they are medically stable and require admission to the Clinical Center for diagnosis. Children ages 1 month to 2 years or under 12 kg will be reviewed by the Pediatric Consult Service prior to scheduling and if approved will be evaluated.
- Examples of disorders that will be under this protocol include inherited developmental defects or diatheses toward infections, cancer, or an environmentally induced disease. The principal investigator, along with consulting specialists, will review the medical records of prospective participants and offer admission based upon the potential to help the individual, to learn from the participant, or to initiate clinical or basic research suggested by the participant s workup. This protocol is not intended to serve as an umbrella protocol for small studies of specific disorders. In general, no more than 5 families known to have the same disorder will be investigated under this protocol.
- Some participants will be relatives of patients with known diagnoses, and their specimens will be obtained for the purpose of heterozygote testing or to serve as controls to help diagnose the proband. All participants shall be seen as inpatients, outpatients or via Telehealth at the discretion of the principal investigator, based upon particular research interests and expertise. Normal adult volunteers aged 18 years or older will be enrolled to provide control blood and urine specimens.
Key exclusion criteria (3 listed)
- Participants under 1 month of age will not be seen at the NIH Clinical center because care is more readily proffered to older individuals at the Clinical Center.
- Participants over two years of age will not be admitted if they are medically unstable and do not require admission to the Clinical Center for diagnosis.
- Pregnant women are excluded.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Clinical phenotyping
Time frame: years to decades followup
Clinical characterization.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 29 Oct 2026.
- Background: PubMed 3027448Gahl WA, Adamson M, Kaiser-Kupfer I, Ludwig IH, O'Connell HJ, Cohen W, Barranger J. Biochemical phenotyping of a single sibship with both cystinosis and Fabry disease. J Inherit Metab Dis. 1985;8(3):127-31. doi: 10.1007/BF01819297.
- Background: PubMed 3988933Bernardini I, Rizzo WB, Dalakas M, Bernar J, Gahl WA. Plasma and muscle free carnitine deficiency due to renal Fanconi syndrome. J Clin Invest. 1985 Apr;75(4):1124-30. doi: 10.1172/JCI111806.
- Background: PubMed 3518682Kaiser-Kupfer MI, Caruso RC, Minkler DS, Gahl WA. Long-term ocular manifestations in nephropathic cystinosis. Arch Ophthalmol. 1986 May;104(5):706-11. doi: 10.1001/archopht.1986.01050170096030.
- Derived from this study: PubMed 35854274Theng EH, Brewer CC, Oheim R, Zalewski CK, King KA, Delsmann MM, Rolvien T, Gafni RI, Braddock DT, Jeffrey Kim H, Ferreira CR. Characterization of hearing-impairment in Generalized Arterial Calcification of Infancy (GACI). Orphanet J Rare Dis. 2022 Jul 19;17(1):273. doi: 10.1186/s13023-022-02410-w.
- Derived from this study: PubMed 31064750Cohen JI, Manoli I, Dowdell K, Krogmann TA, Tamura D, Radecki P, Bu W, Turk SP, Liepshutz K, Hornung RL, Fassihi H, Sarkany RP, Bonnycastle LL, Chines PS, Swift AJ, Myers TG, Levoska MA, DiGiovanna JJ, Collins FS, Kraemer KH, Pittaluga S, Jaffe ES. Hydroa vacciniforme-like lymphoproliferative disorder: an EBV disease with a low risk of systemic illness in whites. Blood. 2019 Jun 27;133(26):2753-2764. doi: 10.1182/blood.2018893750. Epub 2019 May 7.
- Derived from this study: PubMed 29244957Thumbigere-Math V, Alqadi A, Chalmers NI, Chavez MB, Chu EY, Collins MT, Ferreira CR, FitzGerald K, Gafni RI, Gahl WA, Hsu KS, Ramnitz MS, Somerman MJ, Ziegler SG, Foster BL. Hypercementosis Associated with ENPP1 Mutations and GACI. J Dent Res. 2018 Apr;97(4):432-441. doi: 10.1177/0022034517744773. Epub 2017 Dec 15.
- Derived from this study: PubMed 20709904Gunay-Aygun M, Zivony-Elboum Y, Gumruk F, Geiger D, Cetin M, Khayat M, Kleta R, Kfir N, Anikster Y, Chezar J, Arcos-Burgos M, Shalata A, Stanescu H, Manaster J, Arat M, Edwards H, Freiberg AS, Hart PS, Riney LC, Patzel K, Tanpaiboon P, Markello T, Huizing M, Maric I, Horne M, Kehrel BE, Jurk K, Hansen NF, Cherukuri PF, Jones M, Cruz P, Mullikin JC, Nurden A, White JG, Gahl WA, Falik-Zaccai T. Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p. Blood. 2010 Dec 2;116(23):4990-5001. doi: 10.1182/blood-2010-05-286534. Epub 2010 Aug 13.
- Derived from this study: PubMed 20524979Maynard DM, Heijnen HF, Gahl WA, Gunay-Aygun M. The alpha-granule proteome: novel proteins in normal and ghost granules in gray platelet syndrome. J Thromb Haemost. 2010 Aug;8(8):1786-96. doi: 10.1111/j.1538-7836.2010.03932.x. Epub 2010 May 27.
- Derived from this study: PubMed 20350831Huizing M, Dorward H, Ly L, Klootwijk E, Kleta R, Skovby F, Pei W, Feldman B, Gahl WA, Anikster Y. OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria. Mol Genet Metab. 2010 Jun;100(2):149-54. doi: 10.1016/j.ymgme.2010.03.005. Epub 2010 Mar 16.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
- Individual participant dataSharing planned: Yes. pending
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
William A Gahl, M.D. principal investigator
National Human Genome Research Institute (NHGRI)
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Arterial Calcification Due to Deficiency of CD73, run by National Human Genome Research Institute (NHGRI) at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 29 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact William A Gahl, M.D. ((301) 402-2739, gahlw@mail.nih.gov), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Clinical phenotyping (time frame: years to decades followup). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00369421, which also lists 9 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 29 Oct 2026.