Rett SyndromeNCT00004807
Study of the Pathogenesis of Rett Syndrome
A study testing dextromethorphan, topiramate and Donepezil in people with Rett Syndrome, run by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD).
Trial summary
OBJECTIVES: I. Extend current knowledge of the phenotype and natural history of Rett syndrome (RS). II. Continue the search for a cytogenetic and/or DNA marker. III. Study the effects of cholinergic drugs based on preliminary evidence for reduced levels of brain acetylcholine, while continuing supportive care to… Read more about this study
- Who is it for?
- Ages 0 to 45 years
- Conditions the study is for
- Rett Syndrome
- What is being tested?
- dextromethorphan, topiramate and Donepezil
- How many people
- 120 participants
- Where
- No sites listed yet
- Study dates
- Jan 1995to not given
- Phase
- Interventional
- 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 0 to 45 years
- All sexes
- No healthy volunteers
- Child, Adult
PROTOCOL ENTRY CRITERIA:
Rett syndrome
Diagnosis confirmed on study
About this study
OBJECTIVES: I. Extend current knowledge of the phenotype and natural history of Rett syndrome (RS).
II. Continue the search for a cytogenetic and/or DNA marker. III. Study the effects of cholinergic drugs based on preliminary evidence for reduced levels of brain acetylcholine, while continuing supportive care to modify seizures, respiratory abnormalities, and motor disturbances, and improve nutrition, behavior, and learning.
IV. Identify targets for future therapeutic interventions, e.g., growth factors, to influence neurologic recovery.
Read the detailed description
PROTOCOL OUTLINE: Patients receive a comprehensive clinical evaluation including an ophthalmologic exam; speech, communication, and developmental assessment; nutritional evaluation; neurologic exam; respiratory monitoring; and cytogenetic studies.
Selected patients with malnutrition are given night feedings of Pediasure with Fiber by nasogastric tube. Specific recommendations for feeding techniques and diet are made.
Selected patients with seizures or severe hyperventilation and progressive rigidity are nonrandomly assigned to dextromethorphan or topiramate therapy.
Oral dextromethorphan is maintained 6 months to 1 year; duration of therapy depends on response. Oral topiramate is given for 6 months to 1 year, and Aricept for 6 months to 1 year.
Concurrent anticonvulsants may require dose adjustments while on above protocols. Supportive care for constipation, scoliosis, and weight loss is allowed.
- Conditions
- Rett Syndrome
- Being tested
- dextromethorphan, topiramate, Donepezil
- Keywords
- Rett syndrome, neurologic and psychiatric disorders, rare disease
- Medical subject headings
- Rett Syndrome, Neurologic Manifestations, Mental Disorders, Rare Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
dextromethorphanDrug
topiramateDrug
DonepezilDrug
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted25 Feb 2000 (estimated)
- Study startJan 1995
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 Rett SyndromeStudies 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
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Treatment
- Enrolment
- 120 participants
Sponsor and investigators
- Lead sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- Sponsor type
- US National Institutes of Health
- Collaborators
- Johns Hopkins University
- Investigators
- Sakkubai Naidu, Study chair, Johns Hopkins University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00004807
- Sponsor's protocol ID
- 199/12009
- Other IDs
- JHUSM-KKI-87021203
- Status last verified
- Dec 1998
- First submitted
- 24 Feb 2000
- Last updated
- 24 Jun 2005
- Results posted
- No
Publications
Wenk GL, Naidu S, Casanova MF, Kitt CA, Moser H. Altered neurochemical markers in Rett's syndrome. Neurology. 1991 Nov;41(11):1753-6. doi: 10.1212/wnl.41.11.1753.
PubMed 1658685Reiss AL, Faruque F, Naidu S, Abrams M, Beaty T, Bryan RN, Moser H. Neuroanatomy of Rett syndrome: a volumetric imaging study. Ann Neurol. 1993 Aug;34(2):227-34. doi: 10.1002/ana.410340220.
PubMed 8338347Wenk GL, O'Leary M, Nemeroff CB, Bissette G, Moser H, Naidu S. Neurochemical alterations in Rett syndrome. Brain Res Dev Brain Res. 1993 Jul 16;74(1):67-72. doi: 10.1016/0165-3806(93)90084-n.
PubMed 8403377Cooke DW, Naidu S, Plotnick L, Berkovitz GD. Abnormalities of thyroid function and glucose control in subjects with Rett syndrome. Horm Res. 1995;43(6):273-8. doi: 10.1159/000184309.
PubMed 7607612Naidu S, Hyman S, Harris EL, Narayanan V, Johns D, Castora F. Rett syndrome studies of natural history and search for a genetic marker. Neuropediatrics. 1995 Apr;26(2):63-6. doi: 10.1055/s-2007-979724.
PubMed 7566454Naidu S, Hyman S, Piazza K, Savedra J, Perman J, Wenk G, Kitt C, Troncoso J, Price D, Cassanova M, et al. The Rett syndrome: progress report on studies at the Kennedy Institute. Brain Dev. 1990;12(1):5-7. doi: 10.1016/s0387-7604(12)80164-1.
PubMed 2344026Casanova MF, Naidu S, Goldberg TE, Moser HW, Khoromi S, Kumar A, Kleinman JE, Weinberger DR. Quantitative magnetic resonance imaging in Rett syndrome. J Neuropsychiatry Clin Neurosci. 1991 Winter;3(1):66-72. doi: 10.1176/jnp.3.1.66.
PubMed 7580176Naidu S, Wong DF, Kitt C, Wenk G, Moser HW. Positron emission tomography in the Rett syndrome: clinical, biochemical and pathological correlates. Brain Dev. 1992 May;14 Suppl:S75-9.
PubMed 1385677Marcus CL, Carroll JL, McColley SA, Loughlin GM, Curtis S, Pyzik P, Naidu S. Polysomnographic characteristics of patients with Rett syndrome. J Pediatr. 1994 Aug;125(2):218-24. doi: 10.1016/s0022-3476(94)70196-2.
PubMed 8040765
Study at a glance
From the registry record, last updated by the sponsor on 24 Jun 2005. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Study of the Pathogenesis of Rett Syndrome
- ClinicalTrials.gov ID
- NCT00004807
- Acronym / sponsor ID
- 199/12009
- Conditions
- Rett Syndrome
- Keywords
- Rett syndrome, neurologic and psychiatric disorders, rare disease
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 120 participants
- Lead sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)US National Institutes of Health
- Collaborators
- Johns Hopkins University
- Study start
- Jan 1995
- First posted
- 25 Feb 2000 (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.
OBJECTIVES: I. Extend current knowledge of the phenotype and natural history of Rett syndrome (RS).
II. Continue the search for a cytogenetic and/or DNA marker. III. Study the effects of cholinergic drugs based on preliminary evidence for reduced levels of brain acetylcholine, while continuing supportive care to modify seizures, respiratory abnormalities, and motor disturbances, and improve nutrition, behavior, and learning.
IV. Identify targets for future therapeutic interventions, e.g., growth factors, to influence neurologic recovery.
Detailed description
PROTOCOL OUTLINE: Patients receive a comprehensive clinical evaluation including an ophthalmologic exam; speech, communication, and developmental assessment; nutritional evaluation; neurologic exam; respiratory monitoring; and cytogenetic studies.
Selected patients with malnutrition are given night feedings of Pediasure with Fiber by nasogastric tube. Specific recommendations for feeding techniques and diet are made.
Selected patients with seizures or severe hyperventilation and progressive rigidity are nonrandomly assigned to dextromethorphan or topiramate therapy.
Oral dextromethorphan is maintained 6 months to 1 year; duration of therapy depends on response. Oral topiramate is given for 6 months to 1 year, and Aricept for 6 months to 1 year.
Concurrent anticonvulsants may require dose adjustments while on above protocols. Supportive care for constipation, scoliosis, and weight loss is allowed.
Study design
- Primary purpose
- Treatment
Who may qualify
- Ages
- 0 to 45 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| dextromethorphan | Drug | – |
| topiramate | Drug | – |
| Donepezil | Drug | – |
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 24 Jun 2005.
- Background: PubMed 1658685Wenk GL, Naidu S, Casanova MF, Kitt CA, Moser H. Altered neurochemical markers in Rett's syndrome. Neurology. 1991 Nov;41(11):1753-6. doi: 10.1212/wnl.41.11.1753.
- Background: PubMed 8338347Reiss AL, Faruque F, Naidu S, Abrams M, Beaty T, Bryan RN, Moser H. Neuroanatomy of Rett syndrome: a volumetric imaging study. Ann Neurol. 1993 Aug;34(2):227-34. doi: 10.1002/ana.410340220.
- Background: PubMed 8403377Wenk GL, O'Leary M, Nemeroff CB, Bissette G, Moser H, Naidu S. Neurochemical alterations in Rett syndrome. Brain Res Dev Brain Res. 1993 Jul 16;74(1):67-72. doi: 10.1016/0165-3806(93)90084-n.
- Background: PubMed 7607612Cooke DW, Naidu S, Plotnick L, Berkovitz GD. Abnormalities of thyroid function and glucose control in subjects with Rett syndrome. Horm Res. 1995;43(6):273-8. doi: 10.1159/000184309.
- Background: PubMed 7566454Naidu S, Hyman S, Harris EL, Narayanan V, Johns D, Castora F. Rett syndrome studies of natural history and search for a genetic marker. Neuropediatrics. 1995 Apr;26(2):63-6. doi: 10.1055/s-2007-979724.
- Background: PubMed 2344026Naidu S, Hyman S, Piazza K, Savedra J, Perman J, Wenk G, Kitt C, Troncoso J, Price D, Cassanova M, et al. The Rett syndrome: progress report on studies at the Kennedy Institute. Brain Dev. 1990;12(1):5-7. doi: 10.1016/s0387-7604(12)80164-1.
- Background: PubMed 7580176Casanova MF, Naidu S, Goldberg TE, Moser HW, Khoromi S, Kumar A, Kleinman JE, Weinberger DR. Quantitative magnetic resonance imaging in Rett syndrome. J Neuropsychiatry Clin Neurosci. 1991 Winter;3(1):66-72. doi: 10.1176/jnp.3.1.66.
- Background: PubMed 1385677Naidu S, Wong DF, Kitt C, Wenk G, Moser HW. Positron emission tomography in the Rett syndrome: clinical, biochemical and pathological correlates. Brain Dev. 1992 May;14 Suppl:S75-9.
- Background: PubMed 8040765Marcus CL, Carroll JL, McColley SA, Loughlin GM, Curtis S, Pyzik P, Naidu S. Polysomnographic characteristics of patients with Rett syndrome. J Pediatr. 1994 Aug;125(2):218-24. doi: 10.1016/s0022-3476(94)70196-2.
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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.
Sakkubai Naidu study chair
Johns Hopkins University
Questions about this trial
What is this clinical trial studying?
A study testing dextromethorphan, topiramate and Donepezil in people with Rett Syndrome, run by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD).
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
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 24 Jun 2005. Status can change between updates, so confirm with the study contact before making plans.
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 NCT00004807, 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 24 Jun 2005.