DermatomyositisNCT00001331
Genetic and Family Studies of Inherited Muscle Diseases
An observational study of Dermatomyositis and Glycogen Storage Disease Type II, run by National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) at 1 site in United States.
Trial summary
The purposes of this study are to identify gene mutations in patients with the muscle diseases phosphofructokinase (PFK) deficiency, acid maltase deficiency (GAA deficiency) and to learn more about how these diseases develop. PFK deficiency is a mild, exercise-related illness. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Dermatomyositis, Glycogen Storage Disease Type II, Glycogen Storage Disease Type VII
- How many people
- Not given
- Where
- 1 siteUnited States
- Study dates
- May 1993to Mar 2002
- Phase
- Observational
- Are there results?
- None posted in the registry
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 Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Patients known to have PFK deficiency, GAA deficiency or other known genetic muscle diseases and their clinically affected relatives.
Clinically unaffected family members of patients with PFK deficiency, GAA deficiency or other known genetic muscle diseases, including both blood relatives and spouses.
Control subjects. These will be individuals whose DNA has been gathered and coded by other investigators and provided to us solely for the purpose of population surveys of mutation frequency. Among such controls, may be unaffected individuals of the same racial or geographic origin as those with a particular mutation. If a convenient bank of such anonymous samples is unavailable, we will seek such individuals among those who work at the NIH or their families or friends.
Trial locations and contacts
1 site in 1 country.
United States1 site
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Bethesda, Maryland, 20892
About this study
The purposes of this study are to identify gene mutations in patients with the muscle diseases phosphofructokinase (PFK) deficiency, acid maltase deficiency (GAA deficiency) and to learn more about how these diseases develop. PFK deficiency is a mild, exercise-related illness. The childhood form of GAA deficiency (Pompe disease) affects the heart and liver and is rapidly fatal. The adult form begins in midlife and involves degeneration of skeletal muscles, leading to weakness and muscle wasting.
The following groups of individuals may be eligible for this study:
Read more
Group A: Patients with PFK deficiency, acid maltase deficiency, and relatives who also are affected. Participants in this group will undergo a brief medical and family history, blood sample collection, and possibly a physical examination, review of medical records, and interview with the patient's physician.
Group B: Unaffected family members of patients in group A, including both blood relatives and spouses. People in this group may be asked to provide a history and genetic information. A review of medical records, interview with the individual's physician, and blood sample may also be requested.
Group C: Control subjects. This group will provide a small blood sample or buccal mucosal sample (tissue sample collected by brushing the inside of the cheek). The samples will be coded and the investigators will not know the participants' identities. DNA from these samples will be analyzed for frequency of gene mutations.
Genetic counseling will be arranged for patients, as appropriate.
Read the detailed description
This laboratory has defined several mutations in muscle diseases which mimic idiopathic inflammatory myopathy, (IIM, polymyositis or dermatomyositis), in particular, phosphofructokinase (PFK) deficiency (Type VII glycogenosis) and acid maltase (GAA) deficiency (Type II glycogenosis). Some patients with each of these autosomal recessive diseases have been shown to be genetic compounds, with different mutations on the alleles from each parent. In this protocol, we seek permission to receive and perform genetic screening on samples of tissue, blood, or DNA from patients with known metabolic muscle diseases, their family members, patients with undiagnosed muscle diseases, and groups of control subjects. Although we will know the names and histories of the patients, and may choose to admit them under other protocols for further studies, the tests we propose to perform on their DNA are currently only of laboratory interest and we believe that the outcome has no implications for the clinical care of the subjects. We propose to obtain oral consent, as appropriate to take a limited history and to speak to the patient's physician, from those patients and family members we speak to directly. All specimens obtained in family studies of a particular disease (e.g., PFK deficiency or GAA deficiency) will be obtained after written consent and will be tested only for the genes of the particular disease under study. After completion of those tests, the DNA, or products derived from it will be stored only under code so that it may be used as a control sample for other studies.
- Conditions
- Dermatomyositis, Glycogen Storage Disease Type II, Glycogen Storage Disease Type VII, Myositis, Polymyositis
- Keywords
- Myopathy, Phosphofructokinase, Acid Maltase, Pompe, Muscle Diseases, Genetic Muscle Diseases
- Medical subject headings
- Dermatomyositis, Glycogen Storage Disease Type II, Glycogen Storage Disease Type VII, Myositis, Polymyositis, Muscular Diseases
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted4 Nov 1999 (estimated)
- Study startMay 1993
- Study completionMar 2002
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for DermatomyositisStudies 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
Sponsor and investigators
- Lead sponsor
- National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
- Sponsor type
- US National Institutes of Health
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00001331
- Sponsor's protocol ID
- 930143
- Other IDs
- 93-AR-0143
- Status last verified
- Mar 2002
- First submitted
- 3 Nov 1999
- Last updated
- 5 Mar 2008
- Results posted
- No
Publications
Plotz PH, Dalakas M, Leff RL, Love LA, Miller FW, Cronin ME. Current concepts in the idiopathic inflammatory myopathies: polymyositis, dermatomyositis, and related disorders. Ann Intern Med. 1989 Jul 15;111(2):143-57. doi: 10.7326/0003-4819-111-2-143.
PubMed 2662848Plotz PH. Not myositis. A series of chance encounters. JAMA. 1992 Oct 21;268(15):2074-7. doi: 10.1001/jama.268.15.2074. No abstract available.
PubMed 1404746Raben N, Sherman J, Miller F, Mena H, Plotz P. A 5' splice junction mutation leading to exon deletion in an Ashkenazic Jewish family with phosphofructokinase deficiency (Tarui disease). J Biol Chem. 1993 Mar 5;268(7):4963-7.
PubMed 8444874
Study at a glance
From the registry record, last updated by the sponsor on 5 Mar 2008. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genetic and Family Studies of Inherited Muscle Diseases
- ClinicalTrials.gov ID
- NCT00001331
- Acronym / sponsor ID
- 930143
- Conditions
- Dermatomyositis, Glycogen Storage Disease Type II, Glycogen Storage Disease Type VII, Myositis, Polymyositis
- Keywords
- Myopathy, Phosphofructokinase, Acid Maltase, Pompe, Muscle Diseases, Genetic Muscle Diseases
- Study type
- Observational
- Recruitment status
- Completed
- Lead sponsor
- National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)US National Institutes of Health
- Study start
- May 1993
- Study completion
- Mar 2002
- First posted
- 4 Nov 1999 (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.
The purposes of this study are to identify gene mutations in patients with the muscle diseases phosphofructokinase (PFK) deficiency, acid maltase deficiency (GAA deficiency) and to learn more about how these diseases develop. PFK deficiency is a mild, exercise-related illness. The childhood form of GAA deficiency (Pompe disease) affects the heart and liver and is rapidly fatal. The adult form begins in midlife and involves degeneration of skeletal muscles, leading to weakness and muscle wasting.
The following groups of individuals may be eligible for this study:
Group A: Patients with PFK deficiency, acid maltase deficiency, and relatives who also are affected. Participants in this group will undergo a brief medical and family history, blood sample collection, and possibly a physical examination, review of medical records, and interview with the patient's physician.
Group B: Unaffected family members of patients in group A, including both blood relatives and spouses. People in this group may be asked to provide a history and genetic information. A review of medical records, interview with the individual's physician, and blood sample may also be requested.
Group C: Control subjects. This group will provide a small blood sample or buccal mucosal sample (tissue sample collected by brushing the inside of the cheek). The samples will be coded and the investigators will not know the participants' identities. DNA from these samples will be analyzed for frequency of gene mutations.
Genetic counseling will be arranged for patients, as appropriate.
Detailed description
This laboratory has defined several mutations in muscle diseases which mimic idiopathic inflammatory myopathy, (IIM, polymyositis or dermatomyositis), in particular, phosphofructokinase (PFK) deficiency (Type VII glycogenosis) and acid maltase (GAA) deficiency (Type II glycogenosis). Some patients with each of these autosomal recessive diseases have been shown to be genetic compounds, with different mutations on the alleles from each parent. In this protocol, we seek permission to receive and perform genetic screening on samples of tissue, blood, or DNA from patients with known metabolic muscle diseases, their family members, patients with undiagnosed muscle diseases, and groups of control subjects. Although we will know the names and histories of the patients, and may choose to admit them under other protocols for further studies, the tests we propose to perform on their DNA are currently only of laboratory interest and we believe that the outcome has no implications for the clinical care of the subjects. We propose to obtain oral consent, as appropriate to take a limited history and to speak to the patient's physician, from those patients and family members we speak to directly. All specimens obtained in family studies of a particular disease (e.g., PFK deficiency or GAA deficiency) will be obtained after written consent and will be tested only for the genes of the particular disease under study. After completion of those tests, the DNA, or products derived from it will be stored only under code so that it may be used as a control sample for other studies.
Study design
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
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
Not reported in the source record.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 5 Mar 2008.
- Background: PubMed 2662848Plotz PH, Dalakas M, Leff RL, Love LA, Miller FW, Cronin ME. Current concepts in the idiopathic inflammatory myopathies: polymyositis, dermatomyositis, and related disorders. Ann Intern Med. 1989 Jul 15;111(2):143-57. doi: 10.7326/0003-4819-111-2-143.
- Background: PubMed 1404746Plotz PH. Not myositis. A series of chance encounters. JAMA. 1992 Oct 21;268(15):2074-7. doi: 10.1001/jama.268.15.2074. No abstract available.
- Background: PubMed 8444874Raben N, Sherman J, Miller F, Mena H, Plotz P. A 5' splice junction mutation leading to exon deletion in an Ashkenazic Jewish family with phosphofructokinase deficiency (Tarui disease). J Biol Chem. 1993 Mar 5;268(7):4963-7.
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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. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
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 Dermatomyositis and Glycogen Storage Disease Type II, run by National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) at 1 site in United States.
The full registered description is in the About this study section and the official record.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 5 Mar 2008. 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00001331, which also lists 3 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 5 Mar 2008; AzTrials last refreshed its copy on 8 Nov 2026.