Studies of Children With Metabolic and Other Genetic Disorders
Studies of Pediatric Patients With Metabolic or Other Genetic Disorders
This study will provide medical evaluations for patients with known or suspected metabolic and genetic disorders. It will allow NICHD investigators and trainees experience in diagnosing, managing, and treating patients with metabolic and genetic disorders who may not be eligible for an active NIH research trial. Participants in this protocol will only have tests and procedures used in the standard practice of medicine; there will be no experimental tests or treatments. Patients who are found eligible for an active research protocol will be offered participation in that study. The medical evaluations in this trial may uncover new disease processes that prompt new research initiatives.
People of all ages with a suspected or diagnosed genetic or metabolic condition may be eligible for this study. In addition, children with unexplained developmental delay, deafness, dysmorphism, congenital malformations, acidosis, failure to thrive, feeding problems, short stature, birth defects, and other syndromes of unknown cause may qualify.
Participants will have a medical history, including a family history, with possible review of previous medical records, and a physical examination. Other procedures may include:
- Consultation with medical specialists.
- Hearing and/or vision tests.
- Imaging studies, such as X-rays, ultrasound and magnetic resonance imaging (MRI).
- Blood drawing Blood samples (2 to 4 tablespoons from adults and 1 to 2 tablespoons from children) may be used for routine lab tests, genetic study, and other research purposes.
- Cheek swab DNA may be obtained by a cheek swab. A small brush is rubbed against the inside of the cheek to collect some cells.
- Skin biopsy Under local anesthetic, a small circle of skin (about 1/8-inch) is removed with a sharp cutting instrument similar to a cookie cutter.
- Muscle biopsy Under local anesthetic, a small piece of muscle tissue is removed to aid in diagnosis.
Participants will undergo only diagnostic procedures that are clinically indicated; that is, only tests needed to confirm or rule out a diagnosis will be done. Tissue samples collected for diagnostic purposes may also be used to obtain DNA for genetic studies and to establish cell lines (cells grown in the laboratory to be maintained indefinitely) for future research.
The results of the medical evaluation may indicate whether or not the participant has the disease that runs in the family (if a genetic disorder is indeed confirmed). Unless he or she requests otherwise, the subject (and parent in the case of a minor) will receive counseling regarding the test results. The implications of a positive test result will be explained, specifically, the participant s risk of having the disease, and the risk of passing the condition on to offspring.
調査の概要
詳細な説明
研究の種類
入学 (実際)
連絡先と場所
研究場所
-
-
Maryland
-
Bethesda、Maryland、アメリカ、20892
- National Institutes of Health Clinical Center, 9000 Rockville Pike
-
-
参加基準
適格基準
就学可能な年齢
健康ボランティアの受け入れ
受講資格のある性別
説明
- INCLUSION CRITERIA:
- Patients with suspected or diagnosed genetic and/or metabolic conditions of all ages are eligible for this protocol.
- In addition, children with unexplained developmental delay, deafness, dysmorphism, congenital malformations, acidosis, failure to thrive, feeding problems, short stature, birth defects, and other syndromes of sporadic or unknown etiology will qualify for this protocol.
- The actual selection of patients most appropriate for research and clinical training needs will be made by protocol investigators.
EXCLUSION CRITERIA:
- Patients that their care requires resources not available at the NIH Clinical Center will not be eligible for the in-patient part of this study.
- There are no exclusions for the out-patient or DNA collection part of the study.
研究計画
研究はどのように設計されていますか?
協力者と研究者
捜査官
- 主任研究者:Margarita J Raygada, Ph.D.、Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
研究記録日
主要日程の研究
研究開始
研究の完了
試験登録日
最初に提出
QC基準を満たした最初の提出物
最初の投稿 (見積もり)
学習記録の更新
投稿された最後の更新 (実際)
QC基準を満たした最後の更新が送信されました
最終確認日
詳しくは
この情報は、Web サイト clinicaltrials.gov から変更なしで直接取得したものです。研究の詳細を変更、削除、または更新するリクエストがある場合は、register@clinicaltrials.gov。 までご連絡ください。 clinicaltrials.gov に変更が加えられるとすぐに、ウェブサイトでも自動的に更新されます。
代謝性疾患の臨床試験
-
Adelphi Values LLCBlueprint Medicines Corporation完了肥満細胞性白血病 (MCL) | 攻撃的な全身性肥満細胞症 (ASM) | SM w Assoc Clonal Hema Non-mast Cell Lineage Disease (SM-AHNMD) | くすぶり全身性肥満細胞症 (SSM) | 無痛性全身性肥満細胞症 (ISM) ISM サブグループが完全に募集されましたアメリカ