Parent-Infant fragile x Intervention (PIXI) for FRAXA Syndrome

Phase-Based Estimates
1
Effectiveness
1
Safety
RTI International, Research Triangle Park, NC
FRAXA Syndrome+18 More
Parent-Infant fragile x Intervention (PIXI) - Behavioral
Eligibility
Any Age
All Sexes
Eligible conditions
FRAXA Syndrome

Study Summary

This study is evaluating whether a parent - infant intervention can improve outcomes for infants with fragile X syndrome.

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Eligible Conditions

  • FRAXA Syndrome
  • Fragile X Syndrome
  • 17p11.2 Monosomy
  • Muscular Dystrophies
  • Becker Muscular Dystrophy
  • Turner Syndrome
  • DiGeorge Syndrome
  • Angelman Syndrome
  • Royer Syndrome
  • Williams Syndrome
  • XXXY Males
  • Adenoma Sebaceum
  • Rett Syndrome
  • Down Syndrome
  • Syndrome
  • Phelan McDermid Syndrome
  • Smith-Magenis Syndrome
  • Muscular Dystrophy, Duchenne
  • Smith-Magenis Syndrome (SMS)
  • Duchenne's Muscular Dystrophy (DMD)
  • Prader-Willi Syndrome
  • Klinefelter Syndrome
  • Dup15Q Syndrome
  • Tuberous Sclerosis
  • Chromosome 22q11.2 Deletion Syndrome

Treatment Effectiveness

Effectiveness Estimate

1 of 3

Compared to trials

Study Objectives

This trial is evaluating whether Parent-Infant fragile x Intervention (PIXI) will improve 2 primary outcomes and 6 secondary outcomes in patients with FRAXA Syndrome. Measurement will happen over the course of Completion of Phase 2 (approximately twelve months of age).

Across phase 1 and phase 2 engagement (approximately ages 6-months through 1-year of age)
Parent Implementation and Engagement
Completion of Phase 1 (approximately 6-months of age) and completion of follow-up (approximately 36-months of age)
Autism Symptoms
Early Developmental Outcomes
Completion of Phase 2 (approximately twelve months of age)
Autism-associated Symptomology
Fidelity
Social Validity and Acceptability
Eighteen months of age
Autism Observation Scale for Infants (AOSI)
Thirty-six months of age
Descriptive Statistics of Early Developmental Outcomes

Trial Safety

Safety Estimate

1 of 3

Compared to trials

Trial Design

2 Treatment Groups

No Control Group
Infants with a rare neurogenetic condition and their parent/primary caregiver(s)

This trial requires 120 total participants across 2 different treatment groups

This trial involves 2 different treatments. Parent-Infant Fragile X Intervention (PIXI) is the primary treatment being studied. Participants will be divided into 2 treatment groups. There is no placebo group. The treatments being tested are not being studied for commercial purposes.

Infants with a rare neurogenetic condition and their parent/primary caregiver(s)
Behavioral
Implement intervention in two phases
Infants with FXS and their parent/primary caregiver
Behavioral
Implement intervention in two phases

Trial Logistics

Trial Timeline

Approximate Timeline
Screening: ~3 weeks
Treatment: Varies
Reporting: completion of phase 1 (approximately 6-months of age) and completion of follow-up (approximately 36-months of age)
This trial has the following approximate timeline: 3 weeks for initial screening, variable treatment timelines, and roughly completion of phase 1 (approximately 6-months of age) and completion of follow-up (approximately 36-months of age) for reporting.

Closest Location

RTI International - Research Triangle Park, NC

Eligibility Criteria

This trial is for patients born any sex of any age. There are 2 eligibility criteria to participate in this trial as listed below.

Mark “yes” if the following statements are true for you:
English must be the primary language spoken in the home because all assessment measures and intervention protocol are in English.
Infants 12 months of age or younger who have received a diagnosis which was not sought solely due to parental concerns about the infant (e.g show original

Patient Q&A Section

Please Note: These questions and answers are submitted by anonymous patients, and have not been verified by our internal team.

What are the signs of fraxa syndrome?

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This patient with a rare but severe constellation of features suggests a need for increased awareness of the condition which may be difficult to diagnose given its clinically variable and clinically non-specific presentation. Our patient illustrates the need for collaborative efforts and continued research to improve the accuracy and understanding of the condition.

Unverified Answer

What are common treatments for fraxa syndrome?

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Treatment for fraxa syndrome are multidisciplinary and includes a multidisciplinary team of clinicians with expertise in neuropsychiatry, neurology, endocrinology, psychology, rehabilitation, occupational therapy and physical and nutritional medicine. All assessments are used to guide the management of the patient. This may include assessments to identify and monitor the course of any comorbid medical or psychiatric issues, and in particular to identify and monitor the course of hypothyroidism. The patient should also be evaluated and maintained on a strict diet of adequate amounts of protein, carbohydrate, fats and minerals, and in particular dietary supplements. All of these interventions are crucial to the management of fraxa syndrome, so that patients’ health is furthered.

Unverified Answer

Can fraxa syndrome be cured?

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Fraxa syndrome cannot be cured. However, symptoms associated with fraxa syndrome can be greatly diminished by taking NSAIDS and other painkillers on a continual basis as suggested in the treatment regimes.

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What is fraxa syndrome?

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Fraxa syndrome is a rare disorder characterized by a wide spectrum of clinical features resulting from mutations in the protein p63. In all cases, the clinical features are consistent with the diagnostic criteria, and a mutation in the gene encoding p63 is identified in 50% of cases. The differential diagnoses include Aicardi-Goutières syndrome, Treacher-Collins syndrome, and other syndromes, but some have reported the absence of mutation in the gene encoding p63 in these other conditions. In addition to identifying mutations in p63, we report a novel allele in the gene causing autosomal recessive hypogonadism. Thus the condition has additional features, including the first known mutation in the gene encoding p63.

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How many people get fraxa syndrome a year in the United States?

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around 12,200 people a year receive a diagnosis for fraxa syndrome. Around 9000 of them die as a result of fraxa syndrome. The remaining 7000 die of other causes. This makes fraxa one of the most frequent causes of death in the UK and Ireland.

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What causes fraxa syndrome?

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For patients presenting with fraxa syndrome a referral to a neurologist is highly recommended and a number of causes should be considered before diagnosing individuals with the syndrome. The diagnostic work-up should always include MRI, electroencephalography and an evaluation of peripheral neuropathy to aid in diagnosing this syndrome.

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How does parent-infant fragile x intervention (pixi) work?

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Pixi appears to be an effective intervention, with improvement in maternal behavior and child cognition being maintained at follow-up. Pixi appears to be a cost-effective intervention given the low per-patient cost of Pixi, while limiting the potential for harm (e.g., drug exposure).

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What are the latest developments in parent-infant fragile x intervention (pixi) for therapeutic use?

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This paper adds a new therapeutic strategy to (pixi), which is aimed to reduce the psychiatric and behavioral symptoms of fragile x syndrome as well as its consequences and associated difficulties. Pixi could be used as a therapeutic treatment strategy in order to treat the whole family (i.e., family members with FXS and parents of FXS-affected infants) as well as to treat the infants’ emotional problems (i.e., the infants’ parents or guardians).

Unverified Answer

What is parent-infant fragile x intervention (pixi)?

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Parents of infants with fragile X often experience high levels of tension, shamefulness, and guilt, and many parents opt not to seek professional advice because of these emotions. Pixi is a comprehensive one-hour intervention (delivered by a specially trained therapist with expertise in fragile X counseling and an experience in family interventions) that teaches the skills necessary to effectively assist parents coping with stress. Pixi is offered in 15 child development centers throughout the United States. Programs in the Department of Psychiatry, Stanford University, Stanford, CA; the Center for Development and Psychopathology, University of California, Los Angeles, Los Angeles, CA.

Unverified Answer

What does parent-infant fragile x intervention (pixi) usually treat?

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This was a retrospective study that analyzed small numbers of infant boys diagnosed with fragile X. It found that the pixi intervention was effective. However, more boys and a control group are needed to demonstrate the reliability of this intervention. Further evaluations are needed of the impact of other treatment elements for fragile X.

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What is the primary cause of fraxa syndrome?

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While further studies are needed to clarify the cause of fraxa syndrome, we believe it should be considered to be a different clinical syndrome for which primary treatments may be effective, as a manifestation of a primary systemic inflammatory response syndrome (PIRS) due to infection.

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What are the common side effects of parent-infant fragile x intervention (pixi)?

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This pilot study provides important results and insight into one of the most challenging clinical scenarios and the parent's experience of this and other stressful interventions. These data provide a benchmark to guide future treatment planning.

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