Genetic DisorderNCT02769949
Pediatric Patients With Metabolic or Other Genetic Disorders
An observational study of Genetic Disorder and Asperger Disorder, run by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) at 1 site in United States.
Trial summary
Background: Some patients with unusual genetic conditions are referred to the National Institutes of Health (NIH). They may not be eligible to join current research studies. Testing such patients is a good way to improve the skills of research staff. The findings could lead to new processes and research. Read more about this study
- Who is it for?
- Ages 1 year to 99 years
- Conditions the study is for
- Genetic Disorder, Asperger Disorder, Autism Spectrum Disorder
- How many people
- 96 participants
- Where
- 1 siteUnited States
- Study dates
- 3 May 2016to 8 Jul 2025
- 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 1 year to 99 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Community dwelling participants with genetic disorders
Who may be able to join
- Subjects of any age with known or suspected genetic disorder
- For relatives of subjects with a genetic disorder: Subject is a family member of the proband
Who cannot join
- -Presence of a medical, psychiatric, or social condition which, in the opinion of the investigator, would place undue burden on the subject, NIH resources, or increase risk of participation
Trial locations and contacts
1 site in 1 country.
United States1 site
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
About this study
Official title: Evaluation of Patients With Genetic Disorders
Background: Some patients with unusual genetic conditions are referred to the National Institutes of Health (NIH). They may not be eligible to join current research studies. Testing such patients is a good way to improve the skills of research staff. The findings could lead to new processes and research.
Objectives:
Read more
To recruit a diverse group of pediatric subjects with genetic disorders. To give clinic staff hands-on experience working with these patients.
Eligibility:
Children any age with a known or suspected genetic disorder.
Design:
Participants will be screened with medical history and physical exam. They may have lab and other tests.
Family members may give DNA samples.
Participants will have:
Medical history
Physical exam
Height, weight, and other measurements taken.
A clinical evaluation of their disorder.
They may have:
Blood, urine, and saliva samples taken
Imaging tests. These may include x-rays, scans, ultrasound, or skeletal survey.
A sleep study
A visit with other specialists at NIH
A genetic test from a commercial lab
Medical photographs taken
Other tests
Participants may have follow-up visits. They may get medical or surgical treatment.
Read the detailed description
The aim of this protocol is to allow genetic-related evaluations for patients with a variety of known or suspected genetic disorders.) If not eligible for a specific NICHD research protocol, patients with genetic-related conditions may be evaluated under the auspices of this protocol to provide stimuli for new clinical research initiatives. Standard medically-indicated laboratory or radiological studies may be performed to confirm a diagnosis or to aid in the management of the patient. Clinical data and excess biospecimens collected as part of clinical care will be analyzed for research purposes. In some cases, the subjects may receive medical or surgical treatment for their disorder at the NIH CC according to current clinical practice. The overall purpose of genetic evaluations under this protocol is to support our research missions, generate hypotheses bank specimens for analysis or future use as controls. Family members of subjects evaluated on this protocol (who have informative meiotic inheritance relationships to the proband or index case) may also be enrolled.
- Conditions
- Genetic Disorder, Asperger Disorder, Autism Spectrum Disorder, Fragile X Syndrome, Developmental Delay
- Keywords
- Genetics, Metabolic, Dysmorphic Syndromes, Developmental Delay, Genetic Counseling, Natural History
- Medical subject headings
- Genetic Diseases, Inborn, Asperger Syndrome, Autism Spectrum Disorder, Fragile X Syndrome, Learning Disabilities
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 |
|---|---|---|
| Family members | Family members (adult and pediatric; affected and unaffected) may be enrolled for the purpose of determining the molecular lesion(s) responsible for genetic disorders. | |
| Genetic disorders | Participants with genetic disorders |
What is being measured
The primary outcome is the main question the study is designed to answer.
Recruit Patients with Suspected or diagnosed genetic diseases
observational/exploratory suspected or diagnosed genetic diseases
Measured: Ongoing
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted12 May 2016 (estimated)
- Study start3 May 2016
- Primary completion8 Jul 2025
- Study completion8 Jul 2025
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Genetic DisorderStudies 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
- Other
- Enrolment
- 96 participants (actual)
Sponsor and investigators
- Lead sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Forbes D Porter, M.D., Principal investigator, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02769949
- Sponsor's protocol ID
- 160103
- Other IDs
- 16-CH-0103
- Status last verified
- 17 Aug 2026
- First submitted
- 11 May 2016
- Last updated
- 2 Oct 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
Abdennadher M, Inati SK, Rahhal S, Khan O, Bartolini L, Thurm A, Theodore W, Miller JS, Porter FD, Bianconi S. Characterization of seizures and EEG findings in creatine transporter deficiency due to SLC6A8 mutation. Am J Med Genet A. 2024 Feb;194(2):337-345. doi: 10.1002/ajmg.a.63418. Epub 2023 Oct 18.
PubMed 37850681
Study at a glance
From the registry record, last updated by the sponsor on 2 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Evaluation of Patients With Genetic Disorders
- ClinicalTrials.gov ID
- NCT02769949
- Acronym / sponsor ID
- 160103
- Conditions
- Genetic Disorder, Asperger Disorder, Autism Spectrum Disorder, Fragile X Syndrome, Developmental Delay
- Keywords
- Genetics, Metabolic, Dysmorphic Syndromes, Developmental Delay, Genetic Counseling, Natural History
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 96 participants (actual)
- Lead sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)US National Institutes of Health
- Study start
- 3 May 2016 (actual)
- Primary completion
- 8 Jul 2025 (actual)
- Study completion
- 8 Jul 2025 (actual)
- First posted
- 12 May 2016 (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.
Background: Some patients with unusual genetic conditions are referred to the National Institutes of Health (NIH). They may not be eligible to join current research studies. Testing such patients is a good way to improve the skills of research staff. The findings could lead to new processes and research.
Objectives:
To recruit a diverse group of pediatric subjects with genetic disorders. To give clinic staff hands-on experience working with these patients.
Eligibility:
Children any age with a known or suspected genetic disorder.
Design:
Participants will be screened with medical history and physical exam. They may have lab and other tests.
Family members may give DNA samples.
Participants will have:
Medical history
Physical exam
Height, weight, and other measurements taken.
A clinical evaluation of their disorder.
They may have:
Blood, urine, and saliva samples taken
Imaging tests. These may include x-rays, scans, ultrasound, or skeletal survey.
A sleep study
A visit with other specialists at NIH
A genetic test from a commercial lab
Medical photographs taken
Other tests
Participants may have follow-up visits. They may get medical or surgical treatment.
Detailed description
The aim of this protocol is to allow genetic-related evaluations for patients with a variety of known or suspected genetic disorders.) If not eligible for a specific NICHD research protocol, patients with genetic-related conditions may be evaluated under the auspices of this protocol to provide stimuli for new clinical research initiatives. Standard medically-indicated laboratory or radiological studies may be performed to confirm a diagnosis or to aid in the management of the patient. Clinical data and excess biospecimens collected as part of clinical care will be analyzed for research purposes. In some cases, the subjects may receive medical or surgical treatment for their disorder at the NIH CC according to current clinical practice. The overall purpose of genetic evaluations under this protocol is to support our research missions, generate hypotheses bank specimens for analysis or future use as controls. Family members of subjects evaluated on this protocol (who have informative meiotic inheritance relationships to the proband or index case) may also be enrolled.
Study design
- Observational model
- Other
- Time perspective
- Other
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Family members | – | –Family members (adult and pediatric; affected and unaffected) may be enrolled for the purpose of determining the molecular lesion(s) responsible for genetic disorders. |
| Genetic disorders | – | –Participants with genetic disorders |
Who may qualify
- Ages
- 1 year to 99 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Community dwelling participants with genetic disorders
Key inclusion criteria (2 listed)
- Subjects of any age with known or suspected genetic disorder
- For relatives of subjects with a genetic disorder: Subject is a family member of the proband
Key exclusion criteria (1 listed)
- -Presence of a medical, psychiatric, or social condition which, in the opinion of the investigator, would place undue burden on the subject, NIH resources, or increase risk of participation
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
Recruit Patients with Suspected or diagnosed genetic diseases
Time frame: Ongoing
observational/exploratory suspected or diagnosed genetic diseases
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 2 Oct 2026.
- Derived from this study: PubMed 37850681Abdennadher M, Inati SK, Rahhal S, Khan O, Bartolini L, Thurm A, Theodore W, Miller JS, Porter FD, Bianconi S. Characterization of seizures and EEG findings in creatine transporter deficiency due to SLC6A8 mutation. Am J Med Genet A. 2024 Feb;194(2):337-345. doi: 10.1002/ajmg.a.63418. Epub 2023 Oct 18.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
Related trials for Genetic Disorder
Active, not recruitingPhase 1/2
Selumetinib in Treating Young Patients With Recurrent or Refractory Low Grade Glioma
Low Grade Glioma, Recurrent Childhood Pilocytic Astrocytoma
Recruiting
Methylation Profiling in Self-Samples for Identification of (Epi)Genetic Biomarkers for Gynecological Cancers
Gynaecological Cancers, Ovarian Cancer
Not yet recruitingPhase 1
A Phase I Study of GLR2053 Tablets in Chinese Healthy Adult Participants
Atopic Dermatitis
RecruitingPhase 1/2
A First-in-human Study of KK8123 in Adults With X-linked Hypophosphatemia
X-linked Hypophosphatemia
RecruitingObservational study
Blood, Urine, and Tissue Collection for Cutaneous Lymphoma, Eczema, and Atopic Dermatitis Research
Cutaneous T-cell Lymphoma, Sezary Syndrome
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.
Forbes D Porter, M.D. principal investigator
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
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 Genetic Disorder and Asperger Disorder, run by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) 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 2 inclusion and 1 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: finished, as of the sponsor's last update on 2 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?
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.
What does the primary outcome measure?
Recruit Patients with Suspected or diagnosed genetic diseases (time frame: Ongoing). 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 NCT02769949, which also lists 1 linked publication.
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 2 Oct 2026.