Rare Disease Trial, Recruiting NCT01087320 Sponsor: National Human Genome Research Institute (NHGRI) Condition: Rare Disease
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Rare Disease Trial, Recruiting

NCT01087320
Recruiting Not Applicable

Who may be able to join

AI generated eligibility summary. Written by an AI model from the official source data and checked on a sample basis. It can contain mistakes, so confirm anything important against the original source. How we use AI

Who might be able to join this trial:

  • You are older than 4 weeks and have a rare genetic condition whose cause is not yet known
  • You are a family member (such as a parent) of someone with a rare genetic condition, where your genetic information could help researchers understand that condition
  • You are a minor (child) or an adult who has difficulty making decisions, as long as a parent or legal guardian is able to sign the consent forms on your behalf
  • In rare cases, DNA or biological samples from a deceased person, including from a fetus or newborn who did not survive, may be included if specific ethical and legal conditions are met
  • In rare cases, a pregnant woman may be enrolled if she is voluntarily donating fetal tissue from an invasive prenatal test and analysis of both parents and the fetus is necessary to understand the genetic condition

Who may not be able to join:

  • Adults who have difficulty making decisions and do not have a legally appointed guardian who can sign consent forms on their behalf
  • Adults with significant mental health or psychiatric conditions that, in the research team's judgment, affect their ability to understand and use complex genetic information — unless they have a proper legal guardian or surrogate decision-maker
  • Adults with cognitive impairment whose legal guardianship has not been officially established and proven before enrollment
  • Pregnant women, except in the specific rare circumstances described above

Important: Always verify eligibility with the trial site directly before applying.

Based on publicly available eligibility criteria from ClinicalTrials.gov. Verify directly with the trial site before acting. This is not medical advice.

This is a simplified plain English summary of the eligibility criteria. Full criteria are set by the trial investigators and may include additional requirements not shown here. Never self-exclude from a trial based on this summary. Contact the trial site directly to confirm your eligibility.
Last synced 27 July 2026
This study is not part of the standard drug-approval phase pathway (for example an observational, device, behavioural, or registry study), so a phase success rate does not apply.

Contact this trial

Principal Investigator: Leslie G Biesecker, M.D., National Human Genome Research Institute (NHGRI)

Phone: (301) 435-2832

Contact details sourced from ClinicalTrials.gov. Verify directly with the trial site before attending.

GP referral letter

Print a one-page summary to share with your doctor.

Trial details

Status
Recruiting
Phase
Not Applicable
Sponsor
National Human Genome Research Institute (NHGRI)
Registry
ClinicalTrials.gov
Start date
18 February 2010

Where this trial is recruiting

🇺🇸 United States

Primary endpoints

Analyze GSMS results for rare disorders for which genetic causes are known but not fully described; Molecular etiology of rare diseases

Can't join this trial?

Expanded access pathways

If this trial is not available to you, other access pathways may exist. In Australia, the TGA Special Access Scheme allows access to unapproved therapeutic goods for individual patients.

TGA Special Access Scheme information

Find other recruiting trials on ClinicalTrials.gov

Data last synced from ClinicalTrials.gov: 27 July 2026. Trial status can change. Always verify current status directly with the trial site before making any decision.

Trial recruitment status can change without notice between our nightly data updates. Always contact the trial site directly to confirm current recruitment status before making any decisions or travel arrangements.

View original record on ClinicalTrials.gov